He maʻi laha ʻole a koʻikoʻi hoʻi ka propionic acidemia e hoʻopilikia ana i nā ʻōnaehana kino he nui, me ka lolo a me ka puʻuwai. ʻO ka hapa pinepine, ʻike ʻia ma hope koke iho o ka hānau ʻana. Hoʻopilikia ia i 3,000 a 30,000 mau kānaka ma ʻAmelika Hui Pū ʻIa.
Ma muli o nā kīnā hoʻoilina, ʻaʻole hiki i ke kino ke hana pono i kekahi mau ʻāpana o nā protein a me nā momona. ʻO kēia ka hopena e alakaʻi ai i nā hōʻailona o ke ʻano. Inā ʻaʻole i ʻike ʻia a mālama ʻia i ka manawa kūpono, hiki iā ia ke alakaʻi i ka coma a me ka make.
Hōʻike kēia ʻatikala i nā hōʻailona o ka propionic acidemia a pehea e ʻike ai iā ia. Kūkākūkā ia i ka mālama ʻana i kēia kūlana, nā pilikia olakino ʻē aʻe e pili ana me ia, a me ka ʻike laulā e pili ana i ka manaʻolana ola no ka propionic acidemia.
I ka hapanui o nā hihia, ʻike ʻia nā hōʻailona o ka propionic acidemia i loko o kekahi mau lā o ka hānau ʻana. Hānau olakino nā pēpē akā hōʻike koke i nā hōʻailona e like me ka ʻai maikaʻi ʻole a me ka pane ʻole. Inā ʻaʻole i ʻike ʻia a mālama ʻia, hiki ke ulu aʻe nā hōʻailona ʻē aʻe.
ʻOi aku ka maʻamau, hiki ke ʻike mua ʻia nā hōʻailona i ka wā kamaliʻi, ʻōpio, a i ʻole ka wā makua. Hiki i ka propionic acidemia ke alakaʻi i nā pilikia mau loa, me ka nānā ʻole i ka wā e hoʻomaka ai.
ʻO ka propionic acidemia kahi "hewa hānau o ka metabolism". He hui kēia o nā maʻi laha ʻole i hoʻokumu ʻia e nā kīnā genetic like ʻole. Hiki iā lākou ke hana i nā pilikia me ka metabolism, ke kaʻina hana e hoʻololi ʻia ai nā meaola i loko o ka meaʻai i ikehu.
Hana ʻia ka metabolism ma o kahi moʻo o nā hopena kemika paʻakikī a hoʻonohonoho pono ʻia, no laila hiki i nā pilikia me nā ʻano genes like ʻole ke alakaʻi i kekahi hoʻopilikia ʻana i nā kaʻina hana metabolic maʻamau.
No ka propionic acidemia kekahi hapa o kēia mau maʻi i kapa ʻia ʻo organic aciduria. ʻO kēia mau maʻi genetic ka hopena mai ka metabolism i hoʻopilikia ʻia o kekahi mau ʻano amino acids (nā poloka kūkulu o nā protein) a me kekahi mau ʻāpana o nā carbohydrates a me nā momona.
ʻO ka hopena, hiki i nā pae o kekahi mau waikawa i loaʻa mau i ke kino ke hoʻomaka e piʻi i nā pae maikaʻi ʻole.
ʻO nā hemahema i loko o nā enzymes like ʻole ke kumu o nā ʻano aciduria organic like ʻole. No ka laʻana, ʻo ka maʻi syrup maple kekahi maʻi laha ʻole i kēia māhele. Ua loaʻa kona inoa mai kona ʻala ʻano.
Ua kapa ʻia hoʻi ka ʻala iʻa ʻo ia ka ʻala propionic acidemia a ua pili ʻia i kekahi o kāna mau lāʻau lapaʻau no ke ola holoʻokoʻa.
Hoʻokumu ʻia ka propionic acidemia e kahi kīnā i loko o kekahi o nā genes ʻelua: PCCA a i ʻole PCCB. Hoʻokumu kēia mau genes ʻelua i ʻelua mau ʻāpana o kahi enzyme i kapa ʻia ʻo propionyl-CoA carboxylase (PCC). Me ka ʻole o kēia enzyme, ʻaʻole hiki i ke kino ke hoʻopili pono i kekahi mau waikawa amino a me kekahi mau ʻāpana o ka momona a me ka cholesterol.
ʻAʻole i kēia manawa. Ua ʻike mua nā kānaka noiʻi i nā genes PCCA a me PCCB, akā i ka holomua ʻana o ka ʻepekema, ua ʻike lākou a hiki i 70 mau hoʻololi genetic ke pāʻani i kahi kuleana. Hiki ke ʻokoʻa ka lāʻau lapaʻau ma muli o ka hoʻololi ʻana, a ua hōʻike kekahi mau haʻawina hoʻōla gene i nā hopena hoʻohiki no nā lāʻau lapaʻau e hiki mai ana. I kēia manawa, ke kau nei ke kālele ʻana i nā lāʻau lapaʻau e kū nei no kēia maʻi.
ʻO nā hōʻailona ʻē aʻe o ka propionic acidemia e komo pū me nā pilikia me ka hana ʻana o ka ikehu ma muli o ka hana ʻole o ka metabolic.
He maʻi hoʻoilina autosomal recessive ka propionic acidemia. ʻO ke ʻano kēia, pono i ke kanaka ke hoʻoilina i ka gene i hoʻopilikia ʻia mai ko lākou mau mākua i mea e loaʻa ai ka maʻi.
Inā he keiki kā kekahi kāne a wahine i hānau ʻia me ka propionic acidemia, aia he 25 pakeneka o ka manawa e loaʻa pū ai i ke keiki aʻe ka maʻi. He mea nui hoʻi e nānā i nā hoahānau e kū nei e loaʻa paha nā hōʻailona ma hope. Hiki i ka ʻike mua a me ka mālama ʻana ke kōkua i ka pale ʻana i nā pilikia lōʻihi o ka maʻi.
Hiki i ke kamaʻilio ʻana me kahi kākāʻōlelo genetic ke kōkua nui no nā ʻohana he nui. E ʻae kēia iā ʻoe e hoʻomaopopo i nā pilikia o kou kūlana. Hiki ke koho ʻia ka hoʻāʻo prenatal a me ke koho ʻana i ka embryo.
Pono ka ʻike ʻana o ka propionic acidemia i ka mōʻaukala piha a me ka hoʻokolokolo kino, a me nā hoʻokolohua hoʻokolohua. He mea nui e hana i kahi ʻike i ka wā hikiwawe loa, no ka mea, ʻo ka poʻe i hoʻopilikia ʻia ua maʻi nui pinepine lākou.
Hiki i nā ʻano pilikia olakino like ʻole ke hana i nā hōʻailona neurological koʻikoʻi a me nā hōʻailona ʻē aʻe i ʻike ʻia ma ka propionic acidemia, me nā maʻi genetic kakaikahi ʻē aʻe. Pono nā loea olakino e kāpae i nā hōʻailona ʻē aʻe ma ka hoʻohaiki ʻana i ke kumu kikoʻī.
Hiki i ka poʻe me ka propionic acidemia ke loaʻa nā ʻano ʻē ma nā hoʻokolohua kūikawā. No ka laʻana, ʻo ka poʻe me kēia maʻi he kiʻekiʻe ko lākou pae o kahi mea i kapa ʻia ʻo propionylcarnitine.
Ma muli o kēia mau hoʻokolohua mua, hana nā kauka e hōʻoia i ka hōʻailona. Hiki i kēia ke komo pū me nā hoʻokolohua e loiloi i ka maikaʻi o ka hana ʻana o ka enzyme PCC. Hiki ke hoʻohana ʻia ka hoʻāʻo genetic o nā genes PCCA a me PCCB e wehewehe i ka hōʻailona.
I kekahi manawa, ʻike mua ʻia nā pēpē ma muli o nā hopena o nā hoʻokolohua nānā maʻamau no nā keiki hānau hou. Eia naʻe, ʻaʻole nā ​​mokuʻāina a me nā ʻāina a puni ka honua e hoʻāʻo no kēia maʻi. Eia kekahi, hiki i nā pēpē ke hōʻike i nā hōʻailona ma mua o ka loaʻa ʻana o nā hopena o kēia mau hoʻokolohua nānā.
He pilikia olakino ka maʻi koʻikoʻi i hoʻokumu ʻia e ka propionic acidemia. Me ke kākoʻo ʻole, hiki i nā kānaka ke make i ka wā o kēia mau hanana. Hiki ke hana ʻia ma mua o ka hōʻailona mua a i ʻole i ka wā o ke kaumaha a i ʻole ka maʻi. Pono kēia poʻe i ke kākoʻo koʻikoʻi ma kahi haukapila.
He nui nā pilikia o ka poʻe me ka propionic acidemia a he pinepine nā maʻi ʻē aʻe. No ka laʻana, ʻo ka cardiomyopathy e ulu ana i ka wā kamaliʻi (ʻo ka awelika makahiki he 7 mau makahiki) ke kumu o nā make he nui. Akā, he kū hoʻokahi kēlā me kēia moʻolelo. Me ka mālama maikaʻi, hiki i nā poʻe he nui me ka propionic acidemia ke ola piha a lōʻihi. Hiki i kahi hui o nā loea maʻi genetic kakaikahi a me nā loea mālama ola ke kōkua.
ʻO ka propionic acidemia pinepine ke alakaʻi i kahi pilikia olakino i nā lā mua o ke ola e hiki ke manaʻo nui ʻia. ʻO ke kaʻina hana o ka hoʻoponopono ʻana i nā mea e hana nei e lōʻihi paha ka manawa. Pono ia i ka mālama mau, akā nui ka poʻe me ka propionic acidemia e ola i ke ola piha. Mai kānalua e hoʻokaʻaʻike aku i nā hoaaloha, ka ʻohana, a me nā limahana lapaʻau no ke kākoʻo.
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Mea kākau: Ruth Jessen Hickman, MD ʻO Ruth Jessen Hickman, MD, he mea kākau manawaleʻa no ke olakino a me ka lāʻau lapaʻau a he mea kākau o nā puke i paʻi ʻia.